cri-du-chat syndrome-this syndrome is a group of symptoms that results from missing a piece of chromosome # 5. The syndrome's name is based on the infant's cry which is high-pitched and sounds like a cat. The person who discovered this syndrome was Dr. Lejeune, he discovered this in 1963.
Inheritance- A deletion is caused by a break in the DNA molecule that makes up a chromosome. In most cases, the chromosome break occurs while the sperm or egg cell (the male or female gamete) is developing. When this gamete is fertilized, the child will develop cri-du-chat syndrome. The parent, however, does not have the break in any other cells of the body and does not have the syndrome. In fact, the break is usually such a rare event that it is very unlikely to happen again if the parent has another child.
baby with cri-du-chat
Symptoms
cry that is high-pitched and sounds like a cat.
downward slant to the eyes .
low birth weight and slow growth.
low-set or abnormally shaped ears .
mental retardation
small head
small jaw
wide-set eyes
-with contemporary interventions the chance of survival to adulthood is possible.
child wih cri-du-chat
treatment- No specific treatment is available for this syndrome, none have been found yet. people who's kids have this syndrome are just trying to get by and help their kids. This is one of the most commom syndromes caused by genetic deletion.
Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if 1 parent has a rearrangement of chromosome # 5. There are many support groups that parents can go to or join to help with this.
first is a normal palm, second hand is a baby with cri-du-chat
Frequency-1 in 50,000 live births get this syndrome.
Dr.Lejeune; person who discoverd cri-du-chat
Can this disorder be treated? If not what can you do to help with it?
What are some of the symptoms of this disorder?
Who discovered this syndrome?
where i got my info;
.Cri-du-chat syndrome- Genetics Home Reference.April 2010. Us National Library of Medicine 18 April 2010.www.https://nlm.nih.gov/medlineplus.
Cri-du-chat syndrome
cri-du-chat syndrome-this syndrome is a group of symptoms that results from missing a piece of chromosome # 5. The syndrome's name is based on the infant's cry which is high-pitched and sounds like a cat. The person who discovered this syndrome was Dr. Lejeune, he discovered this in 1963.
Inheritance- A deletion is caused by a break in the DNA molecule that makes up a chromosome. In most cases, the chromosome break occurs while the sperm or egg cell (the male or female gamete) is developing. When this gamete is fertilized, the child will develop cri-du-chat syndrome. The parent, however, does not have the break in any other cells of the body and does not have the syndrome. In fact, the break is usually such a rare event that it is very unlikely to happen again if the parent has another child.
Symptoms
- cry that is high-pitched and sounds like a cat.
- downward slant to the eyes .
- low birth weight and slow growth.
- low-set or abnormally shaped ears .
- mental retardation
- small head
- small jaw
- wide-set eyes
-with contemporary interventions the chance of survival to adulthood is possible.treatment- No specific treatment is available for this syndrome, none have been found yet. people who's kids have this syndrome are just trying to get by and help their kids. This is one of the most commom syndromes caused by genetic deletion.
Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if 1 parent has a rearrangement of chromosome # 5. There are many support groups that parents can go to or join to help with this.
Frequency- 1 in 50,000 live births get this syndrome.
where i got my info;
.Cri-du-chat syndrome- Genetics Home Reference.April 2010. Us National Library of Medicine 18 April 2010.www.https://nlm.nih.gov/medlineplus.
Google Health cri-du-chat syndrome.MedlinePlus 18 April 2010.www.https://heath.google.com/health
Cri-du-chat Syndrome. April 2010. The University of Utah 18 April 2010.http://learn.genetics.utah.edu.